KEGG   VARIANT: 610v1
Entry
610v1                      Variant                                 
Name
HCN2 gain-of-function mutation
Type
Gain of function
Gene
HCN2  hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [KO:K04955]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602781
Network
nt06544  Neuroactive ligand signaling
Disease
H00783  Febrile seizures
H02564  Generalized epilepsy with febrile seizures plus
Reference
PMID:24324597
  Authors
Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S
  Title
Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.
  Journal
PLoS One 8:e80376 (2013)
DOI:10.1371/journal.pone.0080376
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